R9G (p.Arg9Gly) variant of BAX (Apoptosis regulator BAX)
R9G (p.Arg9Gly) in BAX (Apoptosis regulator BAX) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
R9G (p.Arg9Gly) variant details
- p.Arg9Gly
- rs1379636521
- gnomAD 19-48954940-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.389
- CADD 19.40
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Literature evidence available